rs397516190
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GAG;GAG) | 0 | common in clinvar |
Make rs397516190(-;-) |
Make rs397516190(-;GAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 23419911 |
Gene | MIR208B, MYH7 |
is a | snp |
is | mentioned by |
dbSNP | rs397516190 |
dbSNP (classic) | rs397516190 |
ClinGen | rs397516190 |
ebi | rs397516190 |
HLI | rs397516190 |
Exac | rs397516190 |
Gnomad | rs397516190 |
Varsome | rs397516190 |
LitVar | rs397516190 |
Map | rs397516190 |
PheGenI | rs397516190 |
Biobank | rs397516190 |
1000 genomes | rs397516190 |
hgdp | rs397516190 |
ensembl | rs397516190 |
geneview | rs397516190 |
scholar | rs397516190 |
rs397516190 | |
pharmgkb | rs397516190 |
gwascentral | rs397516190 |
openSNP | rs397516190 |
23andMe | rs397516190 |
SNPshot | rs397516190 |
SNPdbe | rs397516190 |
MSV3d | rs397516190 |
GWAS Ctlg | rs397516190 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397516190(-;-) |
Alt | rs397516190(-;-) |
Reference | Rs397516190(GAG;GAG) |
Significance | Probable-Pathogenic |
Disease | Primary dilated cardiomyopathy Cardiovascular phenotype Ebstein's anomaly |
Variation | info |
Gene | MYH7 MIR208B |
CLNDBN | Primary dilated cardiomyopathy Cardiovascular phenotype Ebstein's anomaly |
Reversed | 1 |
HGVS | NC_000014.8:g.23889120_23889122delCTC |
CLNSRC | ClinVar |
CLNACC | RCV000035861.3, RCV000243331.1, RCV000487455.1, |